10.6084/m9.figshare.5127832.v1 Bose D. Bose D. Krishnamurthy V. Krishnamurthy V. Venkatesh K.S. Venkatesh K.S. Aiyaz M. Aiyaz M. Shetty M. Shetty M. Rao S.N. Rao S.N. Kutty A.V.M. Kutty A.V.M. Supplementary Material for: Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay Karger Publishers 2015 Array CGH Balanced translocation Partial trisomy 12p Partial trisomy 14q 2015-04-16 00:00:00 Dataset https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Molecular_Delineation_of_Partial_Trisomy_14q_and_Partial_Trisomy_12p_in_a_Patient_with_Dysmorphic_Features_Heart_Defect_and_Developmental_Delay/5127832 This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.